Aliases for SLC4A4 Gene
- Solute Carrier Family 4 Member 4 2 3 4
- Solute Carrier Family 4 (Sodium Bicarbonate Cotransporter), Member 4 2 3 5
- Na(+)/HCO3(-) Cotransporter 3 4
- KNBC1 3 4
- NBC1 3 4
- Sodium Bicarbonate Cotransporter 1 (Sodium Bicarbonate Cotransporter, Kidney; Sodium Bicarbonate Cotransporter, Pancreas) 3
- Solute Carrier Family 4, Sodium Bicarbonate Cotransporter, Member 4, Brain Type 3
- Solute Carrier Family 4, Sodium Bicarbonate Cotransporter, Member 4 2
- Solute Carrier Family 4, Sodium Bicarbonate Cotransporter, Member 5 3
- Sodium Bicarbonate Cotransporter 4
External Ids for SLC4A4 Gene
Previous HGNC Symbols for SLC4A4 Gene
Previous GeneCards Identifiers for SLC4A4 Gene
This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
GeneCards Summary for SLC4A4 Gene
SLC4A4 (Solute Carrier Family 4 Member 4) is a Protein Coding gene. Diseases associated with SLC4A4 include Renal Tubular Acidosis, Proximal, With Ocular Abnormalities and Autosomal Recessive Proximal Renal Tubular Acidosis. Among its related pathways are Glucose / Energy Metabolism and Bile secretion. GO annotations related to this gene include transporter activity and anion transmembrane transporter activity. An important paralog of this gene is SLC4A8.
UniProtKB/Swiss-Prot for SLC4A4 Gene
Electrogenic sodium/bicarbonate cotransporter with a Na(+):HCO3(-) stoichiometry varying from 1:2 to 1:3. May regulate bicarbonate influx/efflux at the basolateral membrane of cells and regulate intracellular pH.
Isoform 2: May have a higher activity than isoform 1.